Homo sapiens Protein: SKIV2L
Summary
InnateDB Protein IDBP-79740.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SKIV2L
Protein Name superkiller viralicidic activity 2-like (S. cerevisiae)
Synonyms 170A; DDX13; HLP; SKI2; SKI2W; SKIV2; THES2;
Species Homo sapiens
Ensembl Protein ENSP00000364543
InnateDB Gene IDBG-79738 (SKIV2L)
Protein Structure
UniProt Annotation
Function Helicase; has ATPase activity. Component of the SKI complex which is thought to be involved in exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1 complex (PAF1C).
Subcellular Localization Nucleus {ECO:0000305}. Cytoplasm {ECO:0000305}.
Disease Associations Trichohepatoenteric syndrome 2 (THES2) [MIM:614602]: A syndrome characterized by intrauterine growth retardation, severe diarrhea in infancy requiring total parenteral nutrition, facial dysmorphism, immunodeficiency, and hair abnormalities, mostly trichorrhexis nodosa. Hepatic involvement contributes to the poor prognosis of affected patients. {ECO:0000269PubMed:22444670}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
Experimentally validated
Total 18 [view]
Protein-Protein 18 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0004004 ATP-dependent RNA helicase activity
GO:0004386 helicase activity
GO:0005524 ATP binding
GO:0016817 hydrolase activity, acting on acid anhydrides
GO:0016818 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
Biological Process
GO:0006200 ATP catabolic process
GO:0008152 metabolic process
Cellular Component
GO:0005634 nucleus
GO:0055087 Ski complex
Protein Structure and Domains
PDB ID
InterPro IPR001650 Helicase, C-terminal
IPR011545 DEAD/DEAH box helicase domain
IPR012961 DSH, C-terminal
IPR014001 Helicase, superfamily 1/2, ATP-binding domain
IPR016438 RNA helicase, ATP-dependent, SK12/DOB1
IPR027417 P-loop containing nucleoside triphosphate hydrolase
PFAM PF00271
PF00270
PF08148
PRINTS
PIRSF PIRSF005198
SMART SM00490
SM00487
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q15477
PhosphoSite PhosphoSite-Q15477
TrEMBL Q9NPK3
UniProt Splice Variant
Entrez Gene 6499
UniGene Hs.89864
RefSeq NP_008860
HUGO HGNC:10898
OMIM 600478
CCDS CCDS4731
HPRD 02724
IMGT
EMBL AF019413 AK297230 AL049547 AL645922 AL662849 U09877 U37116 X98378 Z48796
GenPept AAA93259 AAB52523 AAB67978 BAG59713 CAA67024 CAA88733 CAB89307 CAI17460 CAQ09280